DNAscope LongRead PacBio Pipeline

  • PrecisionFDA awarded pipeline for HiFi SNP/Indel/SV detection;
  • Highest accuracy: F1 Score SNP & Indel 99.9%;
  • Processing speed 6x faster than DeepVariant;

Access to current DNAscope PacBio Performance Datasheet (PDF)

Preprint Co-drafted by Sentieon and PacBio Team in 2022

High Accuracy Short Variants Calling

Error counts for DNAscope LongRead across PacBio WGS datasets. Total errors fall between roughly 4k and 12k for the HG001–HG004 samples. Notably, sample HG003 was held out during model training, so its performance reflects true out-of-sample accuracy.

High Accuracy Structural Variants Calling

Haplotype-resolved single base resolution SV caller

Sentieon DNAscope LongReadSV works well with PacBio HiFi reads at different mean-read lengths. It’s designed to perform haplotype-resolved single base-resolution SV calling and shows superior accuracy against known truth sets.

Rapid Turnaround Time

How fast and how cheap? Efficiency metrics for DNAscope LongRead on PacBio WGS data (on c8i.16xlarge, from Fastq to VCF).

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